Canonical Allele Identifier: CA16041970
Gene: GCDH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370963
ClinVar RCV Id: RCV000410473
dbSNP Id: rs1057516899

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12896234_12896237del , CM000681.2:g.12896234_12896237del GRCh38
NC_000019.9:g.13007048_13007051del , CM000681.1:g.13007048_13007051del GRCh37
NC_000019.8:g.12868048_12868051del NCBI36
NG_009292.1:g.10075_10078del

Transcript Alleles

HGVS Amino-acid change
NM_000159.3:c.665_668del VV NP_000150.1:p.Phe222Ter
NM_013976.3:c.665_668del VV NP_039663.1:p.Phe222Ter
NR_102316.1:n.828_831del
NR_102317.1:n.1052-6_1052-3del
XM_006722721.2:c.665_668del XP_006722784.1:p.Phe222Ter
XM_011527899.1:c.665_668del XP_011526201.1:p.Phe222Ter
XM_011527900.1:c.665_668del XP_011526202.1:p.Phe222Ter
XM_011527899.2:c.665_668del XP_011526201.1:p.Phe222Ter
XM_011527900.2:c.665_668del XP_011526202.1:p.Phe222Ter
XM_017026580.1:c.665_668del XP_016882069.1:p.Phe222Ter
NM_000159.4:c.665_668del VV MANE Preferred NP_000150.1:p.Phe222Ter
ENST00000222214.9:c.665_668del ENSP00000222214.4:p.Phe222Ter
ENST00000421816.6:n.643_646del
ENST00000585420.5:n.1001-6_1001-3del
ENST00000590530.5:c.*105_*108del ENSP00000468452.1:p.=
ENST00000591043.1:n.701_704del
ENST00000591470.5:c.665_668del ENSP00000466845.1:p.Phe222Ter